[Paleopathology of deafness: skulls of the Dupuytren Museum]. / Paléopathologie de la surdité: inédits ostéo-archéologiques.

In the 18th and 19th centuries, the Dupuytren Museum was indispensable for the knowledge of pathological anatomy for physicians and surgeons. Nowadays, it is more a museum than a learning unit, but it provides an opportunity to understand through numerous scientific studies the origin of diseases, injuries mechanism and the functional consequences of which could suffer some patients. This study illustrates the interest of the study on pieces in pathological anatomy's museums, this time across selected skulls which belonged to hearing loss people. bizarre.

Cleft palate associated with cervico-facial teratoma: report of two cases and review of the literature.

We report two original cases of association of cleft palate and lateral cervico-facial teratoma. We discuss the embryological explanation. The first child presented a cleft palate associated with two cervico-facial localisations of teratoma. The other had Pierre Robin sequence associated with lateropharyngeal teratoma with an extra sub maxillary localisation. Most reported cases were of midline teratomas, leading different authors to advance a mechanical origin to the cleft. Our cases are different: we could hardly find reported cases of associate lateral tumours and cleft palate, which would suggest two different embryologic mechanisms, or at least a combination of more complicated phenomenons.

Childhood granular cell tumors: two case reports.

Granular cell tumors (GCT), also known as Abrikossoff tumors, are rare tumors found largely in children, with few reports of laryngo-tracheal involvement. Two childhood cases of laryngo-tracheal GCT are reported here, of which one case had multifocal lesions. The histopathological features and the therapeutic management of GCT are also discussed.

Intra-articular recurrence of benign chondroblastoma with articular involvement at initial presentation--a case report.

We report a case of chondroblastoma involving the upper tibial epiphysis, which had an unusually aggressive course, with articular involvement at initial presentation. Intra-articular and soft tissue recurrence occurred after treatment consisting of curettage and bone grafting. Although the incidence of local intraosseous recurrence of chondroblastoma is relatively high, intra-articular and soft tissue implantation is rare and is usually due to intra-articular spillage during surgery. Spontaneous articular involvement is rarely seen.

Postural and locomotor control in normal and vestibularly deficient mice.

We investigated how vestibular information is used to maintain posture and control movement by studying vestibularly deficient mice (IsK-/- mutant). In these mutants, microscopy showed degeneration of the cristae of the semicircular canals and of the maculae of the utriculi and sacculi, while behavioural and vestibulo-ocular reflex testing showed that vestibular function was completely absent. However, the histology of Scarpa's ganglia and the vestibular nerves was normal in mutant mice, indicating the presence of intact central pathways. Using X-ray and high-speed cineradiography, we compared resting postures and locomotion patterns between these vestibularly deficient mice and vestibularly normal mice (wild-type and IsK+/-). The absence of vestibular function did not affect resting posture but had profound effects on locomotion. At rest, the S-shaped, sagittal posture of the vertebral column was the same for wild-type and mutant mice. Both held the head with the atlanto-occipital joint fully flexed, the cervico-thoracic junction fully flexed, and the cervical column upright. Wild-type mice extended the head and vertebral column and could walk in a straight line. In marked contrast, locomotion in vestibularly deficient mice was characterized by circling episodes, during which the vertebral column maintained an S-shaped posture. Thus, vestibular information is not required to control resting posture but is mandatory for normal locomotion. We propose that vestibular inputs are required to signal the completion of a planned trajectory because mutant mice continued rotating after changing heading direction. Our findings support the hypothesis that vertebrates limit the number of degrees of freedom to be controlled by adopting just a few of the possible skeletal configurations.

Perinatal-lethal Gaucher disease.

Gaucher disease is a lysosomal storage disease caused by glucocerebrosidase deficiency. Although purely visceral in most cases, some Gaucher disease patients have neurological signs. Signs of Gaucher disease appear after a symptom-free period, except in rare cases with fetal onset. The description of such cases was based mainly on single reports and siblings. We report here a series of perinatal-lethal Gaucher disease cases highlighting the specificity of this phenotype. We retrospectively studied eight original cases of proven Gaucher disease with fetal onset. Non-immune hydrops fetalis was present in all cases but one, and associated with hepatosplenomegaly, ichthyosis, arthrogryposis, and facial dysmorphy. The similarities between our cases and 33 previously described cases allow us to better delineate the perinatal-lethal Gaucher disease phenotype. Hydrops fetalis, in utero fetal death and neonatal distress are prominent features. When hydrops is absent, neurological involvement begins in the first week and leads to death within three months. Hepatosplenomegaly is a major sign, and associated with ichthyosis, arthrogryposis, and facial dysmorphy in some 35-43% of cases. Perinatal-lethal Gaucher disease is a specific entity defined by its particular course and signs that are absent in classical type 2 Gaucher disease. Our study provides clues to the diagnosis of this likely underdiagnosed condition, which must be biochemically confirmed in order to propose appropriate genetic counselling.

Melanotic neuroectodermal tumour of infancy involving the orbit and maxilla: surgical management and follow-up strategy.

Melanotic neuroectodermal tumour (MNET) of infancy is a rare benign but locally aggressive tumour. We describe our surgical treatment of MNET of the orbital region. There was osteogenic relapse involving the bone of the orbit, 20 days after macroscopically complete excision of the primary tumour when the patient was 12 weeks old. This is only the second report of osteogenic relapse in MNET. The relapse was treated by excision of the involved orbital floor, preserving the orbital periosteum. The tumour has not recurred in 23 months of follow-up. Residual tumour islets may regress spontaneously after incomplete excision of MNET, but the relapse rate is between 15% and 45%. In our opinion, excising a safety margin of a few mm of apparently healthy bone reduces the risk of relapse. In contrast, the orbital contents should be preserved if they are macroscopically normal. Follow-up consisted of frequent physical examinations and CT scans.

Abnormal vestibular control of gaze and posture in a strain of a waltzing rat.

The waltzing behavior is usually attributed to vestibular dysfunction. However, the vestibular control of gaze and posture has not yet been measured quantitatively in any waltzing mutant. Therefore, this study was aimed at investigating the relationship between inner-ear morphology, the circling behavior, and the vestibular control of gaze and posture in a new strain of waltzing rats. Light- and electron-microscopy studies of these mutants did not reveal any structural abnormalities of the vestibular neural epithelia. In addition, the expression of Calretinin and 200-kD phosphorylated and non-phosphorylated neurofilaments was also found to be normal in the vestibular neural epithelia and ganglion cells. In contrast, the mutants showed severe dysfunctions of the vestibular control of gaze and posture. The skeletal geometry of the alert unrestrained animals was studied using cineradiography. At rest, waltzing rats held their heads tilted down: the horizontal semicircular-canal's plane was near the earth-horizontal's plane, instead of being tilted up as in Long Evans control rats. In addition, their cervical column was pitched more forward (33.6 degrees) than in the control group (6.9 degrees). The circling behavior was observed frequently, and the rats had episodes of circling in both directions. The episodes of circling amounted to an average of 17 turns, and the average angular velocity of the circling was 645 degrees/s. Unilateral labyrinthectomy induced the same postural and oculomotor syndromes in the waltzing and control groups. This indicates that the mutant vestibular nerve had a significant resting discharge before the lesion. Eye movements were recorded using acutely implanted search coils. Although waltzing rats were able to perform normal spontaneous eye movements, they showed a complete deficit of the horizontal vestibulo-ocular reflex (HVOR) and an impairment of the maculo-ocular reflex (MOR) during constant velocity, off-vertical axis rotation (OVAR). These results show, for the first time, that deficient transduction and/or processing of the horizontal-canal- and macular-related information can be causally related to the circling behavior and abnormal posture, respectively.

[Is there a delay in bathing the external eye in the treatment of ammonia eye burns? Comparison of two ophthalmic solutions: physiological serum and Diphotérine]. / Existe-t-il un délai pour le lavage oculaire externe dans le traitement d'une brûlure oculaire par l'ammoniaque? Comparaison de deux solutions de lavage: sérum physiologique et Diphotérine.

PURPOSE: An experimental animal study was conducted to analyze the delay for ocular bathing in the treatment of severe ocular ammonia burns. Two solutions of ocular wash, saline solution and Diphotérine were compared. MATERIAL: and methods: The study included 23 eyes of New Zealand albino rabbits that received for 1 minute 100 microl of 15.3% ammonium solution. Each eye was then washed with 250 of saline solution or 250ml Diphotérine after a delay of 1, 3, 5, 10 or 30 minutes. Effects were assessed on the basis of changes in anterior chamber pH, ammonia concentration in the anterior chamber, and cytopathology examination of the burned corneas. RESULTS: Ocular wash with Diphotérine in the first minutes following ocular burn induced an inflexion of the pH curve unlike ocular wash with saline solution. At 30 minutes, there was no inflexion of the pH curve and the ammonia concentration in the anterior chamber was low. Contrary to ocular wash using Diphotérine, stromal edema was seen at cytopathological analysis after washing with saline solution. CONCLUSIONS: This study provides evidence of the interest of ocular bathing in the first minutes following ocular burn by ammonia. The efficacy of external ocular washing with Diphotérine was proven by biochemical and cytopathological demonstrations. The importance of sequelae were related to the degree of initial stromal edema.

[Tibia vara in adolescents. Apropos of 19 cases]. / Le tibia vara de l'adolescent. A propos de 19 cas.

PURPOSE OF THE STUDY: Clinical, and radiological aspects and treatment of adolescent tibia have been studied in a review of 19 children native of the Caribbean. MATERIAL: 23 cases of adolescent tibia vara in 19 children have been collected (14 males and 5 females, aged from 9 to 14). METHODS: Clinical aspects (weight, lower limb axis), radiological signs (aspect of the physis, mechanical axis, epiphyseal slope) were studied pre and post-operatively. RESULTS: All the boys presented an important overweight. Pain was the first symptom, characterized by a progressive varus deformity on a leg which was previously straight. Radiological findings consisted in metaphyseal varus and widening of the medial part of the physis. Mechanical femoro-tibial axis varied from 10 degrees to 55 degrees varus, medial epiphyseal slope from 12 degrees to 30 degrees. Average mechanical femoral angle was 92 degrees and accounted for a mean femoral varus deformity of 4 degrees. 23 knees were operated, 4 after fusion of the whole physis. 10 lateral hemi-epiphysiodesis were performed with a mean correction of 4 degrees every year until fusion. In 3 cases a tibial osteotomy was made in a second time, at the end of growth. In 6 cases of late treated patients, an isolated tibial osteotomy of valgisation was performed. In 7 cases of important deformity before closure of the physis, tibial osteotomy was associated with lateral epiphysiodesis. In one case, a lateral closing wedge osteotomy was performed, associated to an elevation of the medial tibial plateau and a lateral hemi-epiphysiodesis. DISCUSSION: Histopathological examination of the physis showed similarities between adolescent tibia vara, infantile tibia vara and Slipped capital femoral epiphysis: the entire physeal plate was involved. Concerning pathogenesis of adolescent tibia vara, mechanical factors are predominant, with abnormal pressures across the medial part of the physis. CONCLUSION: Adolescent tibia vara occur in obese black children and can be considered as an epiphysiolysis of the upper end of the tibia.

Lipoma of the preputium clitoridis in neonate: an exceptional abnormality different from ambiguous genitalia.

A lipoma of the preputium clitoridis was found in a newborn girl. Ambiguous genitalia was first suspected. Surgery was successfully performed at 5 months.

Head and neck infantile myofibromatosis--a report of three cases.

Infantile myofibromatosis (IM) is a proliferative disorder characterized by the development of single or multiple nodular lesions arising from cutaneous, subcutaneous, muscular, bone or visceral structures. This proliferation may occur at any anatomical site, but in 30% of the cases it involves the head and neck. We report here three cases of head and neck IM occurring in young children and presenting as solitary lesions. The clinical heterogeneity and the misleading histopathological appearances can make the diagnosis difficult. The treatment is surgical but the low rate of recurrence and the possibility of spontaneous tumoral regression may lead to conservative surgery or therapeutic abstention.

[Experimental study about intra-ocular penetration of ammonia]. / Etude expérimentale sur la pénétration intra-oculaire de l'ammoniaque.

PURPOSE: The seriousness of ocular alkali burn depends on low quick the alkali to enter the eye. We report the results of an experimental study on intra-ocular penetration of ammonia. MATERIALS AND METHODS: This study included 23 eyes of New Zealand albino rabbits, burned for 1 minute by 100 microl of a solution titrating 15.3% ammonia. An pH meter probe inserted into the anterior chamber measured pH every 5 seconds. Experiment were carried out within 1, 3, 5, 10 and 30 minutes. An anterior chamber puncture was performed at the end of experiments, after of 1, 3, 5, and 10 minutes, for measuring the ammonia concentration in the anterior chamber. RESULTS: PH increased 1 to 3 minutes after applying of ammonia on the cornea, until a maxima 10, 5 to 6 minutes later, followed by an exponential decrease. After 30 minutes, pH was still higher than physiological pH, and the ammonia concentration was low. The penetration-ratio of ammonia through cornea was about 11%. Measured pH differed from pH calculated from the concentration of ammonia. CONCLUSIONS: The difference between measured and calculated pH evidences chemical reactions. The two pH increases interspersed with a plateau prove the existence of 2 successive acido-basic chemical reactions between ammonia and 2 sorts of acid. Also, the density of protein uptake can be calculated from ammonia. This suggests an interesting avenue of research as protein density can be related in the eye with the pK of the base, and thus foresee the potential danger of a base to biological tissues.

Sicca syndrome and HTLV-I-associated myelopathy/tropical spastic paraparesis.

PURPOSE: The objective of this study is to describe the clinical and immunological aspects observed in patients with both human T-cell lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis and ocular dryness. METHODS: In 15 such patients, clinical and biological examinations completed with a biopsy of secondary salivary glands were performed to assess the etiology of the ocular dryness. RESULTS: Histological study of the biopsy specimens indicated that 80% of the patients had grade 3 or grade 4 lesions, according to the Chisholm scale. Polyclonal hypergammaglobulinemia was found in 60% of patients and lymphocytic alveolitis in 80%. Three patients had past medical history of chronic uveitis. CONCLUSIONS: All findings in these patients were compatible with Sjögren's syndrome; however, no immunological disorders characteristic of the syndrome were found. Tests for antinuclear antibodies and rheumatoid factor proved negative in all cases.

[Sinusoidal hemangioma]. / Hémangiome sinusoïdal.

INTRODUCTION: Sinusoidal hemangioma (SH) was described by two pathologists, Calonje and Fletcher, in 1991. This uncommon cutaneous benign vascular lesions with distinctive histologic features was considered a subset of lesions known as "cavernous hemangiomas". It is made of dilated interconnecting ("sinusoidal"), thin-walled channels with a single-layered lining endothelium and a lobular architecture. PATIENTS AND METHODS: Clinical, radiological (CT, MRI and arteriography), evolutive, and histologic data of 4 patients, whose lesions appeared very similar clinically and histologically, were reviewed and compared to the patterns of the so-called SH. RESULTS: There were 2 males and 2 females. Lesions had an infantile onset in 3 (congenital in 2). They exhibited a protracted course over years in the 4, and they all invaded the right forehead, eyelids and orbit areas. Clinically, they appeared as multilobulated, building, firm tumors under a normal shiny skin. Radiologically, lesions were strikingly nodular, with criteria of slow-flow vascular lesions on MRI and arteriograms. Histologically, all lesions were comprised of well-circumscribed nodules with a lobulated architecture, made of greatly dilated, blood-filled, thin-walled vascular channels, with scanty fibrous stroma between them. Interconnecting channels had the distinctive sinusoidal pattern. There were some elongated pseudopapillary structures. Islands of spindle cells were noted in 2 lesions. DISCUSSION: On the one hand histologic features of the lesions in our 4 patients are identical to those described by Calonje and Fletcher as SH, a lesion not to be confused with classic, involuting-type, hemangioma of infancy and childhood, and with venous or lymphatic malformations of the same location. SH fits into the group of lesions defined by pathologists as "cavenous hemangiomas". On the other hand the lesions in our 4 patients differed from the clinical description of SH as a solitary acquired small (less than 3 cm) nodule in adults. Otherwise the four lesions described herein constitute a distinctive clinicopathologic entity with a striking aggressive local growth although there is a histologic malformative pattern. The presence in 2 cases of islands of spindle cells led us to discuss the differences with spindle cell hemangioendothelioma.

[Kasabach-Merritt syndrome on a congenital tufted angioma]. / Syndrome de Kasabach-Merritt sur angiome en touffes congénital.

INTRODUCTION: Kasabach-Merritt syndrome is a very rare disease of infancy, with profound thrombocytopenia and a mild to severe consumption coagulopathy; this biological phenomenon is difficult to control. CASE REPORT: A 1-month old boy had a congenital plaque-like lesion in the calf. It was a biopsy-proven tufted angioma. Five weeks later, Kasabach-Merritt syndrome developed. After failure of ticlopidine + aspirin, and oral betamethasone treatment, thrombocytopenia was cured with vincristine treatment, then the leg lesion slowly continued to shrink after cessation of the treatment. It had disappeared before the age of 1 year. DISCUSSION: We highlighted two points: 1) Kasabach Merritt does not appear as a complication of a classic hemangioma (infantile, "cellular", "capillary", involuting-type), as it has long been thought. In our experience, it develops on a different endothelial cell proliferation, in this case a congenital tufted angioma, but it can also engraft on a kaposiform hemangioendothelioma. 2) These patients are difficult to treat because, up to now, no single treatment has given constant by good results. Vincristine was recently introduced in the treatment of Kasabach-Merritt syndrome, with excellent, rapid outcome. CONCLUSION: What seems a therapeutic progress in a difficult field needs further control.

Intraoperative localization of neuroblastoma in children with 123I- or 125I-radiolabeled metaiodobenzylguanidine.

BACKGROUND: This study describes a novel method of intraoperative localization of neuroblastoma with a gamma-detecting probe, to detect in situ tumor binding of radiolabeled 123I- or 125I-metaiodobenzylguanidine (MIBG) and improve the quality of tumor resection. METHODS: Fifty-eight children underwent 66 surgical procedures with intraoperative detection of radiolabeled MIBG. All patients with positive MIBG scintiscans at diagnosis were included in the study. A tumor/background ratio exceeding 2:1 at the time of operation was considered positive, indicating a significant uptake of MIBG, compatible with the presence of malignant cells. The surgeons were requested to evaluate the contribution of the method to the surgical procedure. Sensitivity and specificity of the method with either 123I-labeled MIBG or 125I-labeled MIBG, on the basis of correlations between probe findings and pathologic analysis of 288 resected specimens, were determined. RESULTS: Intraoperative detection was helpful in 65% of surgical procedures, allowing a better definition of tumor limits and extension to locoregional nodes or detection of small and nonpalpable tumors in sites with difficult surgical access, especially during operation for relapse. The detection was not contributory in 35% of the procedures (well-localized tumors, thoracic neuroblastoma for technical reasons, highly differentiated tumors as ganglioneuroma, and tumors with mainly necrosis or fibrosis). The sensitivity of 123I and 125I was the same (91% and 92%), but the specificity of 125I (85%) was significantly higher than that of 123I (55%) (p < 0.005). CONCLUSIONS: First, this study demonstrates the feasibility of intraoperative detection, with radiolabeled MIBG, of neuroblastoma in children. We advocate the use of 125I rather than 123I. Second, the method is useful to improve the quality of macroscopic resection in widespread neuroblastoma with nodal involvement, in sites with difficult access, and in operations for relapse.

[Intestinal stenosis during ulceronecrotizing enterocolitis]. / Sténoses intestinales au cours des entérocolites ulcéronécrosantes.

BACKGROUND: Intestinal stenosis following necrotizing enterocolitis (NE) occurred both in surgically-treated neonates after perforation, distal to an enterostomy and in medically-treated patients developing symptoms of obstruction. It has been proposed to detect stenosis by contrast enema before refeeding in those medically-treated patients. The aim of this study was to compare delay, clinical and pathological characteristics of surgical and medical patients, both after occlusion and prospective contrast studies. PATIENTS AND METHODS: Fifteen patients out of 50 with NE observed from 1984 to 1994 developed one or several intestinal stenosis. Diagnosis of NE was based on usual clinical signs, X-ray pneumatosis (43 to 50) and/or perforation in 16 cases. Among these 16 surgical patients, 12 survived the initial perforation. Among the 34 medical patients, 11 were seen before 1989 and did not have contrast studies before refeeding; 23 seen after 1989 had a contrast enema before. RESULTS: One or several stenosis occurred in four out of 12 surgical patients, four out of 11 medical patients without prospective contrast studies (one of them died from sepsis) and seven out of the 23 of the prospective group. On the whole, 26 stenosis occurred in 15 neonates: ten to the right colon, five to the transverse and 11 to the left colon. One ileal stenosis followed enterostomy. Delay of stenosis development was comparable in the three groups (between 3 weeks and 3 months). Pathologic examination showed similar lesions in the three groups (fibrosis 15, edema nine to 15 and chronic inflammation 12 to 15). CONCLUSION: Among 46 neonates who survived the initial period, 15 developed stenosis, a 30% proportion similar in patients operated on for perforation or in medically-treated patients whose diagnosis was made after occlusion or after contrast enema as well. These results suggest that systematic stenosis detection by contrast enema may avoid complications and permit programmed one-stage surgery.

[Gorham disease with prominent pleuropulmonary manifestation]. / Maladie de Gorham à manifestation pleuropulmonaire prédominante.

Gorham's disease usually manifests as diffuse osteolysis but may be complicated with pleural effusion. We describe the case of a 12 year-old boy who had repeated pleural effusions. Radiographs show a mediastinal widening and an interstitial syndrome related to hemolymphangiomatous involvement.